Results 211 to 220 of about 161,013 (302)

Genotype and Age at Onset Drive Vermis Atrophy in CACNA1A- and GAA-FGF14-related Ataxias. [PDF]

Cerebellum
Indelicato E, Nachbauer W, Amprosi M, Pellerin D, Mangesius S, Gizewski ER, Kiechl S, Brais B, Boesch S, Krismer F, Alzheimer’s Disease Neuroimaging Initiative.   +10 more
europepmc   +1 more source

KCNJ4 variants disrupt inward‐rectifier potassium channel function and cause refractory epilepsy

Epilepsia, EarlyView.
Abstract Objective Epilepsy is a common neurological disorder with a strong genetic basis, most frequently arising from ion channel dysfunction. Although multiple inwardly rectifying potassium (Kir) channels have been implicated in epileptogenesis, the contribution of KCNJ4, which encodes the Kir2.3 channel, has not previously been established in human
Hu Pan, Deng Liu, Wuhen Xu, Yang Li, Juanli Hu, Oppermann Henry, Alexander Fuchs, Rami Abou Jamra, Zhen Liu, Mei He, Yuanlu Chen, Shengnan Wu, Xiaohuan Dong, Yiqiao Chen, Pengchao Wang, Weiyue Gu, Han Jing, Yabing Tang, Ya‐Jie Wang, Xiao Mao, Neng Xiao   +20 more
wiley   +1 more source

Identification of a Novel VLDLR Variant in the First Report of CAMRQ1 From Africa: Expanding the Spectrum of Cerebellar Ataxia Syndromes. [PDF]

Hum Mutat
Jawabri AA, Salazar-Villacorta A, Senghor H, Ndiaye R, Al-Mehrzi A, Diop AG, Ndiaye M, Ali BR, Rodriguez Cruz PM.   +8 more
europepmc   +1 more source

Glymphatic dysfunction couples with cortical excitation–inhibition imbalance in epilepsy: Evidence from Rasmussen encephalitis

Epilepsia, EarlyView.
Cong Fu et al. demonstrate that glymphatic system dysfunction is linked to enhanced inhibitory cortical activity using diffusion MRI and EEG. These findings highlight a mechanistic link between perivascular fluid dynamics and neuronal activity, suggesting a role for glymphatic function in maintaining cortical stability in epilepsy.
Cong Fu, Yujiao Yang, Pan Gong, Kun Lv, Yilin Liu, Chongyang Tang, Xiongfei Wang, Lixin Cai, Qingzhu Liu, Yuwu Jiang, Taoyun Ji, Guoming Luan   +11 more
wiley   +1 more source

Correlation between cerebellar lesion topography and differential diagnosis with clinical presentation in dogs. [PDF]

J Vet Intern Med
Villalonga L, Amengual-Batle P, Czopowicz M, Faller KME, Gonçalves R, Aige V, Padrós AA, Maeso C, Suñol A.   +8 more
europepmc   +1 more source

CaMKIIβ insufficiency disrupts cortical networks, producing aberrant low‐gamma oscillations and seizure susceptibility

Epilepsia, EarlyView.
Abstract Objective Pathogenic variants in the calcium/calmodulin‐dependent protein kinase II B gene (CAMK2B) have been associated with neurodevelopmental disorders, including epilepsy, yet the mechanisms underlying cortical dysfunction remain largely unclear.
Hiroki Mutoh, Kazushi Aoto, Atsuo Fukuda, Hirotomo Saitsu   +3 more
wiley   +1 more source

From Sound to Silence: Cerebellar Abscesses and Herniation Due to Cochlear Implant Infection With <i>Escherichia coli</i> and <i>Bacteroides fragilis</i>. [PDF]

Case Rep Infect Dis
Molfetta C, Biswas R, Pickard M, Salim T, Nuñez C.   +4 more
europepmc   +1 more source

Unique deficits in place coding across subfields of the hippocampus in a mouse model of temporal lobe epilepsy

Epilepsia, EarlyView.
Abstract Objective Memory problems are comorbid with temporal lobe epilepsy (TLE). Animal models of TLE reveal impairments in spatial firing fields of hippocampal place cells, providing a potential neural substrate for memory problems. Each subfield of the hippocampus carries out unique aspects of spatial memory, yet little is known about how ...
Brittney L. Boublil, Margaret M. Donahue, Cathy B. Dang, Gergely Tarcsay, Laura A. Ewell   +4 more
wiley   +1 more source

High-Level Alzheimer Disease Neuropathological Change Following Iatrogenic Exposure.

JAMA Neurol
Banerjee G, Mok TH, Hyare H, Cousins O, Jaunmuktane Z, Mead S, Collinge J.   +6 more
europepmc   +1 more source

Human Prion Disease: Pathogenesis, Diagnosis and Public Health. [PDF]

Viruses
Bellini P, Ruggiero F, Benedetti A, Cereda CW, Gobbi C, Bianco G, Bongiovanni M.   +6 more
europepmc   +1 more source